Neumann Hartmut P H, Vortmeyer Alexander, Schmidt Dieter, Werner Martin, Erlic Zoran, Cascon Alberto, Bausch Birke, Januszewicz Andrzej, Eng Charis
Department of Nephrology, University of Freiburg Medical Center, Freiburg im Breisgau, Germany.
N Engl J Med. 2007 Sep 27;357(13):1311-5. doi: 10.1056/NEJMoa071407.
The first description of pheochromocytoma in 1886 has been attributed to Felix Fränkel, who described an 18-year-old woman with bilateral adrenal "sarcoma and angio-sarcoma." We reviewed the publication and then approached and assessed relatives of the patient to update the findings with the use of current technology. In-depth review revealed that the histopathological findings were consistent with pheochromocytoma. Because the proband was young and had bilateral disease at diagnosis, we hypothesized that she had an inherited condition. The presence of germ-line RET mutations in four living relatives demonstrates that the original patient and her family had multiple endocrine neoplasia type 2 and provides molecular evidence that she had pheochromocytoma.
1886年对嗜铬细胞瘤的首次描述归功于费利克斯·弗兰克尔，他描述了一名18岁患有双侧肾上腺“肉瘤和血管肉瘤”的女性。我们查阅了该出版物，然后联系并评估了患者的亲属，以利用当前技术更新研究结果。深入审查发现，组织病理学结果与嗜铬细胞瘤一致。由于先证者诊断时年轻且患有双侧疾病，我们推测她患有遗传性疾病。四名在世亲属中存在种系RET突变，这表明最初的患者及其家族患有2型多发性内分泌肿瘤，并提供了她患有嗜铬细胞瘤的分子证据。
